A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724617



Internal ID9958919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230275894..230276058hg38UCSC Ensembl
Outerchr1:230411640..230411804hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961839, essv6886126, essv6864182
SamplesSSM027, SSM089, SSM096
Known GenesGALNT2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2724617
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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